Creutzfeldt-Jakob Disease: A Rare Case of Dementia

Abstract

Prion diseases are rare neurodegenerative diseases that have a rapid evolution. Creutzfeldt-Jakob disease (CJD) is the most common and its sporadic form the most frequent. Definitive diagnosis is only obtained through autopsy, and there are currently no available treatments. Here, we present a case of an 84-year-old woman presenting with resting tremor, abnormal gait, frequent falls, apraxia, visual hallucinations, and delirium. There were no signs of relevant metabolic, infectious, or nutritional alterations, and brain computed tomography (CT) scan and magnetic resonance imaging (MRI) had no significant findings. Two months later, the patient was completely immobile with mutism, seizures, and myoclonus. In the presence of a rapidly progressive dementia associated with myoclonus, it was hypothesized that the patient had CJD. The patient's clinical state deteriorated, she died, and autopsy confirmed sporadic CJD. The purpose of this case is to highlight a rare disease that can go undiagnosed because of low awareness and clinical suspicion and the importance of the differential diagnosis of dementia, a common disease at this age.

Keywords: case report; cognitive decline; creutzfeld-jakob disease; dementia; prion disease.

Figure 1. Pathology findings

A: Cerebellar cortex (hematoxylin and eosin, x15), with small- and medium-sized vacuoles in the molecular layer (short arrows); loss of Purkinje cells and gliosis (long arrow). B: Cerebellar cortex (prion protein, x12), with a granular- and plaque-type (short arrows) reaction in the granular layer.